AiPD: Autoinhibited Protein Database

A0JNW5

Gene name	UHRF1BP1L
Protein name	UHRF1-binding protein 1-like
Names	Syntaxin-6 Habc-interacting protein of 164 kDa
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23074
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1037-1110 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1037-1110 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for A0JNW5

Entry ID	Method	Resolution	Chain	Position	Source
AF-A0JNW5-F1	Predicted				AlphaFoldDB

1077 variants for A0JNW5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs993659423 CA242319208	2	A>T		No	ClinGen Ensembl
rs779424895 CA6736951	3	G>A		No	ClinGen ExAC gnomAD
CA6736950 rs779424895	3	G>V		No	ClinGen ExAC gnomAD
CA386207782 rs1249189861	7	K>N		No	ClinGen gnomAD
CA386207787 rs1417003158	7	K>R		No	ClinGen gnomAD
rs543190372 CA6736947	8	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA242319139 rs150284702	10	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6736946 rs761553116	10	L>S		No	ClinGen ExAC gnomAD
rs907379921 CA242319158	10	L>V		No	ClinGen Ensembl
CA386207684 rs1354121249	14	S>F		No	ClinGen gnomAD
TCGA novel	16	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	18	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1592745877 CA386198893	18	K>R		No	ClinGen Ensembl
CA6736924 rs752532306	22	P>A		No	ClinGen ExAC TOPMed gnomAD
CA6736923 rs767597269	23	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6736922 rs763060516	24	K>N		No	ClinGen ExAC gnomAD
rs1442534292 CA386198732	28	S>N		No	ClinGen gnomAD
rs773439018 CA6736921	29	T>A		No	ClinGen ExAC gnomAD
CA6736920 rs770058649	33	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1592745810 CA386198628	34	G>S		No	ClinGen Ensembl
rs1566236570 CA386198597	35	E>V		No	ClinGen Ensembl
CA6736919 rs762120859	38	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1041059412 CA242292035	41	L>F		No	ClinGen TOPMed
CA6736918 rs776950894	42	D>E		No	ClinGen ExAC gnomAD
rs200028341 CA6736917	44	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1427691166 CA386198367	47	Q>R		No	ClinGen TOPMed gnomAD
CA386198281 rs1384436549	51	D>G		No	ClinGen gnomAD
CA6736914 rs772568264	58	I>V		No	ClinGen ExAC gnomAD
rs745322589 CA6736913	59	N>S		No	ClinGen ExAC gnomAD
TCGA novel	60	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386198114 rs1482991672	62	F>S		No	ClinGen gnomAD
rs1005080654 CA242292000	64	N>S		No	ClinGen gnomAD
CA242291999 rs886839407	65	K>E		No	ClinGen Ensembl
rs1225427768 CA386198057	66	A>T		No	ClinGen gnomAD
rs778378738 CA6736912	66	A>V		No	ClinGen ExAC gnomAD
TCGA novel	67	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223977400 CA386198030	68	I>V		No	ClinGen gnomAD
rs755806114 CA6736891	70	I>M		No	ClinGen ExAC TOPMed gnomAD
CA386196777 rs1432665377	77	T>S		No	ClinGen gnomAD
CA6736890 rs747813008	78	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1157150635 CA386196760	80	I>V		No	ClinGen gnomAD
CA6736889 rs781131662	81	C>S		No	ClinGen ExAC gnomAD
rs754862016 CA6736888	82	L>S		No	ClinGen ExAC gnomAD
CA386196714 rs1188343473	85	D>G		No	ClinGen TOPMed gnomAD
CA6736870 rs747805868	86	K>N		No	ClinGen ExAC gnomAD
rs367741405 CA242288101	93	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs781039425 CA6736869	95	E>G		No	ClinGen ExAC gnomAD
CA386196643 rs1482624788	95	E>K		No	ClinGen gnomAD
CA386196634 rs1206517131	96	E>*		No	ClinGen gnomAD
CA386196612 rs1296508549	99	S>N		No	ClinGen gnomAD
CA6736867 rs746832433	99	S>R		No	ClinGen ExAC gnomAD
rs867328881 CA242288068	103	P>S		No	ClinGen Ensembl
TCGA novel	104	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6736865 rs758366390	108	T>A		No	ClinGen ExAC gnomAD
CA6736864 rs199617484	109	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1342638364 CA386196536	112	Q>K		No	ClinGen TOPMed
rs767760232 CA6736860	113	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1209029916 CA386196500	114	E>G		No	ClinGen gnomAD
CA242285321 rs567853527	115	Y>N		No	ClinGen Ensembl
CA6736837 rs192604369	116	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6736836 rs765691845	125	I>V		No	ClinGen ExAC gnomAD
rs1203961965 CA386196336	126	S>P		No	ClinGen TOPMed
CA386196269 rs1406022163	131	S>A		No	ClinGen gnomAD
CA386196255 rs376487909	132	I>L		No	ClinGen ESP gnomAD
rs376487909 CA242285284	132	I>V		No	ClinGen ESP gnomAD
rs761339998 CA6736835	133	V>A		No	ClinGen ExAC gnomAD
CA6736834 rs776293462	134	I>V		No	ClinGen ExAC gnomAD
rs1489145223 CA386196224	135	R>G		No	ClinGen TOPMed
CA386196219 rs1188980115	135	R>I		No	ClinGen TOPMed
CA386196208 rs1457079848	136	I>V		No	ClinGen Ensembl
CA6736833 rs763750994	142	N>S		No	ClinGen ExAC gnomAD
TCGA novel	143	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1454212844 CA386196105	143	A>V		No	ClinGen TOPMed
CA386196081 rs1189856624	145	F>C		No	ClinGen TOPMed
CA242285255 rs944189762	148	S>F		No	ClinGen Ensembl
CA6736829 rs745683898	151	R>L		No	ClinGen ExAC TOPMed gnomAD
rs745683898 CA6736830	151	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775042787 CA6736831	151	R>W		No	ClinGen ExAC TOPMed gnomAD
rs374281517 CA6736828	153	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs911365040 CA242285243	153	Y>H		No	ClinGen Ensembl
rs1420782541 CA386195980	154	S>N		No	ClinGen TOPMed gnomAD
CA6736827 rs138390055	156	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs749285484 CA6736826	157	A>V		No	ClinGen ExAC gnomAD
CA386195930 rs1447331195	158	H>Y		No	ClinGen gnomAD
rs985648658 CA242285235	159	W>G		No	ClinGen Ensembl
TCGA novel	160	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201321249 CA242285231	160	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
CA6736823 rs747234159	163	D>Y		No	ClinGen ExAC gnomAD
CA242285184 rs886572683	166	F>S		No	ClinGen TOPMed
CA386195744 rs1233211892	171	D>N		No	ClinGen gnomAD
TCGA novel	171	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386195715 rs1320761280	173	Q>*		No	ClinGen gnomAD
CA386195686 rs1435719891	175	G>R		No	ClinGen TOPMed
rs1008604176 CA242284650	180	F>L		No	ClinGen Ensembl
rs768676656 CA6736804	182	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1434538376 CA386195304	183	I>L		No	ClinGen TOPMed
CA6736802 rs780255444	185	W>C		No	ClinGen ExAC gnomAD
rs747087832 CA6736803	185	W>R		No	ClinGen ExAC gnomAD
CA386195269 rs1169425304	187	M>R		No	ClinGen TOPMed
rs377755134 CA6736801	188	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA386195264 rs1166425791	188	I>V		No	ClinGen gnomAD
rs1033239454 CA242284609	190	I>V		No	ClinGen TOPMed
rs557010188 CA6736799	191	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs557010188 CA6736798	191	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1473931987 CA386195230	193	D>G		No	ClinGen gnomAD
TCGA novel	195	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386195196 rs1438860899	198	S>A		No	ClinGen gnomAD
rs561937782 CA6736794	198	S>L		No	ClinGen ExAC gnomAD
CA386195188 rs1228904642	199	H>R		No	ClinGen TOPMed
rs1369912842 CA386195191	199	H>Y		No	ClinGen TOPMed
TCGA novel	200	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767117090 CA6736793	201	E>D		No	ClinGen ExAC gnomAD
CA6736792 rs759111256	203	M>L		No	ClinGen ExAC gnomAD
rs1293028725 CA386195143	206	P>A		No	ClinGen gnomAD
rs1293028725 CA386195141	206	P>S		No	ClinGen gnomAD
COSM199258 COSM199257 rs1376524072 CA386195130	208	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA386195129 rs1283042688	208	R>Q		No	ClinGen gnomAD
TCGA novel	211	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA242284541 rs200577404	211	T>S		No	ClinGen Ensembl
rs573030482 CA242284532	214	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	215	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365952411 CA386195072	216	I>M		No	ClinGen TOPMed gnomAD
rs773096296 CA6736788	217	R>S		No	ClinGen ExAC gnomAD
CA386195056 rs1489198466	219	T>I		No	ClinGen TOPMed
CA386195030 rs1316514405	223	R>K		No	ClinGen gnomAD
rs12823733 CA6736766	227	C>G		No	ClinGen ESP ExAC gnomAD
CA242283411 COSM4004604 rs12823733 COSM4004605	227	C>S	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs924361926 CA242283400	228	N>D		No	ClinGen TOPMed
rs761651972 CA6736765	230	I>T		No	ClinGen ExAC gnomAD
rs12823883 CA6736764	231	A>S		No	ClinGen ExAC gnomAD
rs12823883 CA6736763	231	A>T		No	ClinGen ExAC gnomAD
rs1217447644 CA386194712	234	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA242283391 rs12824229	236	L>I		No	ClinGen Ensembl
CA242283385 rs12823715	236	L>Q		No	ClinGen Ensembl
TCGA novel	243	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA242283378 rs12824194	246	T>I		No	ClinGen Ensembl
CA6736759 rs771295113	249	Q>*		No	ClinGen ExAC gnomAD
rs749582937 CA6736758	251	K>R		No	ClinGen ExAC gnomAD
rs1406970909 CA386194524	252	A>V		No	ClinGen gnomAD
CA6736757 rs372479904	253	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6736756 rs770238223	258	K>M		No	ClinGen ExAC gnomAD
rs12824031 CA242283367	260	L>F		No	ClinGen Ensembl
rs12823512 CA242283362	260	L>R		No	ClinGen Ensembl
rs781734116 CA6736754	264	I>V		No	ClinGen ExAC gnomAD
CA242283343 rs12824013	267	S>*		No	ClinGen Ensembl
rs1164258818 CA386194426	267	S>A		No	ClinGen gnomAD
CA242283338 rs953973713	268	T>A		No	ClinGen TOPMed
CA386194415 rs1207769678	269	E>Q		No	ClinGen gnomAD
CA6736753 rs754407693	273	S>N		No	ClinGen ExAC gnomAD
rs1461354198 CA386194376	273	S>R		No	ClinGen gnomAD
CA386194353 rs1207920586	274	M>R		No	ClinGen gnomAD
rs1311536775 CA386194343	275	A>T		No	ClinGen gnomAD
rs746529074 CA6736752	277	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA6736751 rs758031775	280	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA6736750 rs758031775	280	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs200111938 CA6736749	280	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6736733 rs765257839	283	T>A		No	ClinGen ExAC TOPMed gnomAD
rs17851246 CA6736732	283	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA242321488 rs765257839	283	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1253279581 CA386210898	285	V>I		No	ClinGen TOPMed
CA386210893 rs573915714	286	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6736731 rs573915714	286	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756960392 CA6736729	289	Q>*		No	ClinGen ExAC gnomAD
CA386210838 rs1458058852 COSM1365137 COSM1365138	294	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs201252456 CA6736727	294	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs929825080 CA242321452	295	Q>E		No	ClinGen Ensembl
rs763855878 CA6736726	296	T>A		No	ClinGen ExAC TOPMed gnomAD
rs918448419 CA242321448	297	S>*		No	ClinGen Ensembl
CA6736725 rs180758035	298	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	299	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752722162 CA6736724	299	A>S		No	ClinGen ExAC gnomAD
rs1592715492 CA386210809	299	A>V		No	ClinGen Ensembl
CA6736723 rs202134033	300	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386210798 COSM1581893 COSM1581894 rs1222996055	301	D>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1488903427 CA386210795	302	V>I		No	ClinGen gnomAD
rs146280796 CA6736722	306	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs141831407 CA6736721	311	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1289130648 CA386210724	312	D>G		No	ClinGen gnomAD
rs765504499 CA6736720	312	D>Y		No	ClinGen ExAC gnomAD
rs762028330 CA6736719	315	V>I		No	ClinGen ExAC gnomAD
rs1307756547 CA386210695	316	K>T		No	ClinGen gnomAD
CA386210678 rs1303850622	318	T>I		No	ClinGen gnomAD
CA386210681 rs1367950059	318	T>S		No	ClinGen gnomAD
rs1343505835 CA386210677	319	S>T		No	ClinGen gnomAD
rs768965983 CA386210659	321	H>L		No	ClinGen ExAC TOPMed gnomAD
rs768965983 CA6736717	321	H>P		No	ClinGen ExAC TOPMed gnomAD
CA386210660 rs768965983	321	H>R		No	ClinGen ExAC TOPMed gnomAD
CA386210661 rs1393380450	321	H>Y		No	ClinGen TOPMed gnomAD
rs747479617 CA6736716	322	L>S		No	ClinGen ExAC gnomAD
rs891169619 CA242321372	323	V>L		No	ClinGen TOPMed gnomAD
rs891169619 CA242321384	323	V>M		No	ClinGen TOPMed gnomAD
rs1160745658 CA386210644	324	I>L		No	ClinGen gnomAD
rs1160745658 CA386210646	324	I>V		No	ClinGen gnomAD
CA386210634 rs1411182174	325	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA242321348 rs996611143	326	H>L		No	ClinGen TOPMed gnomAD
COSM1600323 CA386210630 COSM1600322 rs996611143	326	H>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA6736715 rs139590438	326	H>Y		No	ClinGen ESP ExAC TOPMed
CA386210623 rs1208278131	327	L>R		No	ClinGen TOPMed gnomAD
rs1268778974 CA386210615	328	D>E		No	ClinGen gnomAD
rs1327220685 CA386210606	330	H>P		No	ClinGen gnomAD
CA6736713 rs745412263	330	H>Y		No	ClinGen ExAC gnomAD
CA6736711 rs770606044	331	I>V		No	ClinGen ExAC gnomAD
CA386210585 rs1211963954	333	D>G		No	ClinGen TOPMed
CA6736710 rs202187681	333	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1283077207 CA386210561	336	H>L		No	ClinGen gnomAD
CA6736654 rs182322349	345	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1430129573 CA386210484	345	R>H		No	ClinGen TOPMed gnomAD
COSM1194275 COSM1194274 CA386210482 rs1430129573	345	R>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs370455416 CA6736653	346	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747870323 CA6736652	347	T>I		No	ClinGen ExAC gnomAD
rs541901743 CA6736651	349	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs746939407 CA6736649	350	A>T		No	ClinGen ExAC gnomAD
rs1254661433 CA386210446	351	M>I		No	ClinGen gnomAD
CA386210450 rs1444589370	351	M>T		No	ClinGen gnomAD
CA386210427 rs1343315282	354	S>C		No	ClinGen TOPMed gnomAD
rs962059053 CA242318845	355	F>L		No	ClinGen TOPMed gnomAD
CA6736647 rs757319492	357	Q>H		No	ClinGen ExAC gnomAD
CA242318811 rs11110226	360	I>M		No	ClinGen Ensembl
rs1372114976 CA386210348	366	H>Y		No	ClinGen gnomAD
rs748321632 CA6736622	371	S>R		No	ClinGen ExAC gnomAD
rs1272691370 CA386210296	371	S>R		No	ClinGen TOPMed
rs781424626 CA6736621	373	N>D		No	ClinGen ExAC TOPMed gnomAD
rs781424626 CA386210286	373	N>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	374	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs560791701 CA242317217	375	W>R		No	ClinGen gnomAD
rs1247711641 CA386210263	376	M>V		No	ClinGen gnomAD
rs766827309 CA6736618	377	Y>C		No	ClinGen ExAC gnomAD
CA6736619 rs751886591	377	Y>H		No	ClinGen ExAC gnomAD
rs1271943931 CA386210214	382	T>N		No	ClinGen gnomAD
CA386210215 rs1271943931	382	T>S		No	ClinGen gnomAD
CA6736616 rs751005320	383	K>E		No	ClinGen ExAC TOPMed gnomAD
CA386210209 rs1603617726	383	K>I		No	ClinGen Ensembl
rs373993213 CA386210203	384	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6736615 rs373993213	384	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs370302979 CA6736614	386	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370302979 CA242317194	386	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1368024880 CA386210184	387	G>E		No	ClinGen gnomAD
CA6736612 rs763657437	389	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	389	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389381708 CA386210163	390	N>S		No	ClinGen TOPMed
CA386210132 rs1165160357	394	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA386210117 rs1391003685	396	F>S		No	ClinGen gnomAD
rs759447962 CA6736608	397	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1566212141 CA386210099	398	C>W		No	ClinGen Ensembl
CA386210090 rs1426227815	400	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA386210078 rs1327549899	401	E>D		No	ClinGen TOPMed
CA6736605 rs371526994	405	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs78150829 CA242317094	407	V>G		No	ClinGen Ensembl
rs748231859 CA6736604	410	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA386210004 COSM1365135 rs1188853611 COSM1365136	412	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6736602 rs747326063	413	G>C		No	ClinGen ExAC gnomAD
CA6736601 rs747326063	413	G>R		No	ClinGen ExAC gnomAD
TCGA novel	413	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386209986 rs1294236468	415	P>S		No	ClinGen TOPMed
rs1265758768 CA386209977 COSM1288821 COSM1288822	416	P>L	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA386209972 rs1257343183	417	K>R		No	ClinGen gnomAD
rs780253228 CA6736600	418	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6736599 rs758879981	420	T>A		No	ClinGen ExAC gnomAD
CA6736597 rs550595800	421	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs756757210 CA6736596	423	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	424	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753410465 CA6736595	424	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1436163647 CA386209911	427	T>S		No	ClinGen gnomAD
rs763717238 CA6736594	428	Q>E		No	ClinGen ExAC gnomAD
CA6736593 rs760238237	428	Q>L		No	ClinGen ExAC
CA242316986 rs1011704113	429	T>R		No	ClinGen TOPMed
CA6736567 rs773253476	432	D>E		No	ClinGen ExAC gnomAD
CA386209858 rs1415400424	433	Y>C		No	ClinGen gnomAD
CA386209860 rs1423861710	433	Y>H		No	ClinGen gnomAD
rs764027962 CA6736565	434	P>A		No	ClinGen ExAC TOPMed gnomAD
rs764027962 CA386209852	434	P>S		No	ClinGen ExAC TOPMed gnomAD
rs760837220 CA6736564	436	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs775505194 CA6736562	437	G>E		No	ClinGen ExAC gnomAD
rs1249803825 CA386209809	441	T>A		No	ClinGen gnomAD
rs184306306 CA6736560	441	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA6736557 rs749735525	446	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1355419583 CA386209764	448	Q>P		No	ClinGen gnomAD
CA386209740 rs1380649915	451	A>V		No	ClinGen TOPMed
rs201807094 CA242315642	454	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6736555 rs201807094	454	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6736554 rs141651069	456	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386209710 rs141651069	456	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754625763 CA6736552	457	S>F		No	ClinGen ExAC
CA6736553 rs780742483	457	S>T		No	ClinGen ExAC gnomAD
rs1334746229 CA386209693	459	V>A		No	ClinGen TOPMed
CA242315603 rs943951833	459	V>M		No	ClinGen TOPMed gnomAD
CA386209676 rs1229611347	462	L>F		No	ClinGen TOPMed
rs1162203803 CA386209668	463	A>G		No	ClinGen gnomAD
CA386209671 rs1270413802	463	A>P		No	ClinGen TOPMed
CA6736550 rs766144137	466	N>D		No	ClinGen ExAC TOPMed gnomAD
CA6736551 rs766144137	466	N>H		No	ClinGen ExAC TOPMed gnomAD
CA6736549 rs758231668	467	I>V		No	ClinGen ExAC gnomAD
CA242315570 rs912238683	469	Q>E		No	ClinGen TOPMed gnomAD
CA386209625 rs1238290975	469	Q>H		No	ClinGen TOPMed
rs764996942 CA6736529	471	S>F		No	ClinGen ExAC gnomAD
rs753867433 CA6736527	473	A>G		No	ClinGen ExAC TOPMed gnomAD
rs753867433 COSM3376074 CA6736528 COSM3376075	473	A>V	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6736525 rs759709951	474	E>Q		No	ClinGen ExAC gnomAD
COSM545850 rs766723484 CA6736523 COSM545849	477	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6736522 rs763142951	477	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6736521 rs773625784	478	S>C		No	ClinGen ExAC gnomAD
CA6736520 rs770100413	481	K>Q		No	ClinGen ExAC gnomAD
CA6736519 rs762362287	482	S>N		No	ClinGen ExAC
CA6736518 rs777147845	484	I>M		No	ClinGen ExAC TOPMed gnomAD
rs151336515 CA6736517	485	C>F		No	ClinGen 1000Genomes ExAC gnomAD
rs151336515 CA386209512	485	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA242307153 rs199945556	487	N>D		No	ClinGen Ensembl
CA6736516 rs746523254	489	K>N		No	ClinGen ExAC TOPMed gnomAD
rs199786991 CA6736512	492	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA386209454 rs1393118033	494	P>A		No	ClinGen gnomAD
rs375169581 CA6736509	499	A>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	499	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6736508 rs755051174	501	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs751678092 CA386209398	502	I>L		No	ClinGen ExAC TOPMed gnomAD
CA6736506 rs766437643	502	I>T		No	ClinGen ExAC gnomAD
CA6736507 rs751678092	502	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6736505 rs763206679	503	E>K		No	ClinGen ExAC gnomAD
rs1350487612 CA386209377	505	T>I		No	ClinGen gnomAD
CA242307081 rs564986494	505	T>P		No	ClinGen gnomAD
CA386209346 rs1300766232	509	Y>C		No	ClinGen gnomAD
rs1300766232 CA386209347	509	Y>S		No	ClinGen gnomAD
CA242307080 rs960971428	510	P>L		No	ClinGen TOPMed
rs985729151 CA242307079	512	G>*		No	ClinGen Ensembl
TCGA novel	512	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406539932 CA386209316	514	D>N		No	ClinGen TOPMed gnomAD
CA386209296 rs1233025801	516	P>R		No	ClinGen gnomAD
rs756491172 CA6736459	517	I>T		No	ClinGen ExAC gnomAD
rs765592434 CA6736503	517	I>V		No	ClinGen ExAC gnomAD
rs760147499 CA6736456	521	N>D		No	ClinGen ExAC gnomAD
CA6736454 rs766028535	521	N>K		No	ClinGen ExAC TOPMed gnomAD
rs773729782 CA6736455	521	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	522	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773023556 CA6736452	523	Y>C		No	ClinGen ExAC gnomAD
CA6736451 rs147123632	524	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA386209051 rs1157603108	525	Q>R		No	ClinGen gnomAD
CA386209042 rs1426381386	526	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA386209036 rs1603617097	526	L>P		No	ClinGen Ensembl
CA386209026 rs1175063691	527	N>S		No	ClinGen gnomAD
TCGA novel	528	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386209009 rs1393912912	528	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA386208983 rs1160384193	530	Q>H		No	ClinGen gnomAD
CA242294102 rs866882078	533	V>E		No	ClinGen Ensembl
CA242294105 rs912949220	533	V>M		No	ClinGen TOPMed
CA6736448 rs768461116	534	D>N		No	ClinGen ExAC gnomAD
rs1476458926 CA386208941	534	D>V		No	ClinGen TOPMed
TCGA novel	536	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6736447 rs747032006	536	R>K		No	ClinGen ExAC gnomAD
rs1442776485 CA386208900	537	S>N		No	ClinGen TOPMed gnomAD
CA6736446 rs778824784	538	I>F		No	ClinGen ExAC gnomAD
rs769332885 CA6736445	539	L>I		No	ClinGen ExAC gnomAD
rs1215204306 CA386208858	540	W>*		No	ClinGen gnomAD
rs776165837 CA242294066	540	W>*		No	ClinGen Ensembl
CA386208815 rs1364250590	543	Q>*		No	ClinGen gnomAD
rs752992039 CA6736441	551	S>R		No	ClinGen ExAC
CA242294039 rs867246091	557	A>S		No	ClinGen Ensembl
CA386208605 rs1376373510	558	V>L		No	ClinGen gnomAD
rs752158787 CA6736437	561	L>S		No	ClinGen ExAC gnomAD
rs566910361 CA6736436	562	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA6736435 rs762586173	563	D>G		No	ClinGen ExAC gnomAD
rs750033703 CA6736434	566	K>E		No	ClinGen ExAC TOPMed gnomAD
CA386208488 rs1259309448	566	K>N		No	ClinGen gnomAD
CA6736432 rs761581935	569	E>K		No	ClinGen ExAC gnomAD
CA386208460 rs1279870517	570	H>R		No	ClinGen gnomAD
CA386208452 rs1566188473	571	V>G		No	ClinGen Ensembl
CA386208446 rs1309268771	572	D>A		No	ClinGen gnomAD
rs1205556945 CA386208449	572	D>N		No	ClinGen gnomAD
rs776282417 CA6736431	574	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768534198 CA6736430	574	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	574	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386208414 rs1275395065	577	G>A		No	ClinGen TOPMed
rs1413290101 CA386208404	579	M>L		No	ClinGen gnomAD
CA6736427 rs770956492	581	K>N		No	ClinGen ExAC gnomAD
rs1254979996 CA386208368	582	F>C		No	ClinGen gnomAD
rs1334804043 CA386208358	584	I>V		No	ClinGen gnomAD
rs748271207 CA6736402	589	K>I		No	ClinGen ExAC gnomAD
rs1241600997 CA386208321	589	K>N		No	ClinGen gnomAD
CA6736401 rs776946716	591	E>K		No	ClinGen ExAC gnomAD
rs1305830950 CA386208304	592	C>R		No	ClinGen gnomAD
rs768839387 CA6736400	593	H>L		No	ClinGen ExAC TOPMed gnomAD
rs768839387 CA386208295	593	H>P		No	ClinGen ExAC TOPMed gnomAD
CA386208294 rs768839387	593	H>R		No	ClinGen ExAC TOPMed gnomAD
rs371896932 CA6736399	596	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6736398 rs367742125	598	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA386208258 rs1385541526	598	R>H		No	ClinGen TOPMed gnomAD
CA6736397 rs758964893	599	A>T		No	ClinGen ExAC gnomAD
CA6736396 rs187623009	600	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1363080016 CA386208242	601	S>C		No	ClinGen gnomAD
COSM78746 rs1337194237 CA386208239	602	I>V	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA386208231 rs1158204041	603	Q>*		No	ClinGen gnomAD
CA242293593 rs61740615	607	M>T		No	ClinGen Ensembl
rs756811921 CA6736394	609	A>S		No	ClinGen ExAC gnomAD
rs1191859591 CA386208174	611	N>T		No	ClinGen gnomAD
CA386208143 rs1603617084	615	C>F		No	ClinGen Ensembl
rs1263009219 CA386208135	616	P>L		No	ClinGen gnomAD
TCGA novel	617	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207481759 CA386208117	619	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs374748413 CA6736393 COSM199245	619	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA242293568 rs1030204536	622	D>N		No	ClinGen TOPMed gnomAD
rs191592097 CA6736391	624	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763805112 CA6736392	624	E>K		No	ClinGen ExAC gnomAD
CA386208077 rs1300858133	625	A>D		No	ClinGen gnomAD
CA386208060 rs1232900808	628	Q>E		No	ClinGen gnomAD
rs752475984 CA6736390	629	D>E		No	ClinGen ExAC gnomAD
CA6736389 rs562315940	630	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1383894568 CA386208035	631	K>T		No	ClinGen gnomAD
rs774296183 CA386208022	633	C>G		No	ClinGen ExAC gnomAD
rs774296183 CA6736387	633	C>S		No	ClinGen ExAC gnomAD
rs958945961 CA242293520	635	F>C		No	ClinGen Ensembl
rs1033718467 CA242293516	636	F>C		No	ClinGen Ensembl
CA6736386 rs3748287	637	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1566187685 CA386207983	638	K>R		No	ClinGen Ensembl
rs538548609 CA6736385	640	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA242293502 rs978944509	642	S>N		No	ClinGen gnomAD
CA386207913 rs1395710676	648	D>G		No	ClinGen TOPMed
CA6736384 rs750468238	649	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	650	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781302464 CA6736383	651	N>S		No	ClinGen ExAC gnomAD
CA386207892 rs1477729681	651	N>Y		No	ClinGen gnomAD
CA242293471 rs865872184	652	L>F		No	ClinGen Ensembl
CA6736382 rs747298504	652	L>P		No	ClinGen ExAC TOPMed gnomAD
rs150233886 CA6736381	653	L>P		No	ClinGen ESP ExAC gnomAD
CA386207882 rs1366958231	653	L>V		No	ClinGen TOPMed
rs759923388 CA6736379	654	H>P		No	ClinGen ExAC TOPMed gnomAD
CA386207875 rs759923388	654	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779503974 CA6736378	656	I>V		No	ClinGen ExAC TOPMed gnomAD
rs748842672 CA6736376	657	F>S		No	ClinGen ExAC gnomAD
rs1324553770 COSM1581890 CA386207822	658	Q>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
CA386207814 rs1271442794	659	R>G		No	ClinGen gnomAD
CA6736375 rs200286047	659	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386207763 rs1293872503	662	H>Q		No	ClinGen TOPMed gnomAD
rs755732423 CA386207741	664	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs755732423 CA6736374	664	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	667	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6736373 rs752396566	668	M>I		No	ClinGen ExAC gnomAD
rs186392940 CA242293434	668	M>L		No	ClinGen 1000Genomes
CA6736371 rs754801523	669	H>P		No	ClinGen ExAC TOPMed gnomAD
CA6736372 rs754801523	669	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	670	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6736370 rs751434686	673	K>E		No	ClinGen ExAC gnomAD
rs200709715 CA242293419	675	N>S		No	ClinGen Ensembl
rs868391596 CA242293414	676	I>L		No	ClinGen TOPMed gnomAD
rs868391596 CA386207618	676	I>V		No	ClinGen TOPMed gnomAD
rs762860264 CA6736368	680	L>V		No	ClinGen ExAC gnomAD
rs1297653911 CA386207583	681	N>S		No	ClinGen gnomAD
rs1259064769 CA386207570	683	N>D		No	ClinGen TOPMed
rs776772630 CA6736367	684	T>A		No	ClinGen ExAC gnomAD
CA386207548 rs1186330069	686	K>R		No	ClinGen gnomAD
rs1438068319 CA386207541	687	T>N		No	ClinGen gnomAD
rs1274447791 CA386207536	688	S>A		No	ClinGen gnomAD
CA6736365 rs760953370	688	S>F		No	ClinGen ExAC gnomAD
rs1476413737 CA386207527	690	A>T		No	ClinGen TOPMed
rs375348827 CA6736362	691	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6736360 rs771456030	695	A>V		No	ClinGen ExAC
CA6736359 rs749826829	696	V>A		No	ClinGen ExAC gnomAD
CA386207487 rs1292476581	696	V>L		No	ClinGen gnomAD
CA386207479 rs1331188079	697	Y>C		No	ClinGen gnomAD
CA6736358 rs777315069	699	S>F		No	ClinGen ExAC gnomAD
CA386207450 rs1416078850	701	F>C		No	ClinGen gnomAD
rs374528388 CA6736355	701	F>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	704	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754712043 CA6736353	707	G>E		No	ClinGen ExAC gnomAD
CA386207401 rs1179288543	708	M>V		No	ClinGen gnomAD
TCGA novel	709	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA242293295 rs146784164	714	R>Q		No	ClinGen ESP TOPMed
CA6736352 COSM933755 rs370923099	714	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs368497727 CA6736349	716	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA386207338 rs764217508	717	S>I		No	ClinGen ExAC TOPMed gnomAD
CA6736348 rs764217508	717	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1289113875 CA386207331	718	F>S		No	ClinGen gnomAD
rs1224110688 CA386207324	719	V>G		No	ClinGen TOPMed gnomAD
rs1432149841 CA386207327	719	V>I		No	ClinGen TOPMed gnomAD
CA386207326 rs1432149841	719	V>L		No	ClinGen TOPMed gnomAD
rs1487703389 CA386207317	720	D>G		No	ClinGen TOPMed
rs991484692 CA242293283	726	I>L		No	ClinGen Ensembl
CA242293284 rs991484692	726	I>V		No	ClinGen Ensembl
CA386207272 rs1295091456	727	W>S		No	ClinGen Ensembl
CA6736346 rs752897945	728	I>T		No	ClinGen ExAC gnomAD
CA6736344 rs759894460	731	P>R		No	ClinGen ExAC gnomAD
CA6736345 rs767863606	731	P>T		No	ClinGen ExAC gnomAD
CA242293256 rs916851541	733	R>S		No	ClinGen TOPMed
CA6736340 rs765171691	736	E>A		No	ClinGen ExAC gnomAD
rs769228871 CA242293246	736	E>D		No	ClinGen ExAC TOPMed gnomAD
rs780740789 CA6736337	740	E>V		No	ClinGen ExAC TOPMed gnomAD
rs746684956 CA6736335 COSM199244	741	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs768296331 CA6736336	741	P>S		No	ClinGen ExAC gnomAD
RCV000884591 rs77271987 CA6736333	743	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1483493755 CA386207059	743	T>I		No	ClinGen gnomAD
rs1232069316 CA386207032	745	N>K		No	ClinGen gnomAD
CA6736332 rs750332393	745	N>S		No	ClinGen ExAC gnomAD
rs768407100 CA242293190	746	Q>H		No	ClinGen Ensembl
rs778995693 CA6736331	747	V>L		No	ClinGen ExAC TOPMed
rs756203319 CA6736330	748	S>P		No	ClinGen ExAC gnomAD
CA386206992 rs1238181255	749	L>V		No	ClinGen TOPMed gnomAD
rs1202984949 CA386206977	750	N>S		No	ClinGen gnomAD
rs752809896 CA6736329	751	T>I		No	ClinGen ExAC gnomAD
CA386206963 rs752809896	751	T>K		No	ClinGen ExAC gnomAD
CA386206903 rs1302005372	755	E>D		No	ClinGen TOPMed
CA6736326 rs759773142	755	E>V		No	ClinGen ExAC gnomAD
rs1274767193 CA386206893	756	S>C		No	ClinGen TOPMed gnomAD
TCGA novel	756	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA242293147 rs1030799527	757	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751753009 CA6736325	758	D>Y		No	ClinGen ExAC gnomAD
rs1041024946 CA242293133	759	L>P		No	ClinGen Ensembl
CA386206832 rs1221010771	761	G>S		No	ClinGen gnomAD
rs1234457107 CA386206820	762	R>*		No	ClinGen TOPMed
rs765722745 CA242293119	762	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765722745 CA6736321	762	R>P		No	ClinGen ExAC TOPMed gnomAD
rs765722745 COSM933753 CA6736322	762	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs762377291 CA6736320	763	L>W		No	ClinGen ExAC gnomAD
rs139104661 CA6736318	765	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs369358032 CA6736319	765	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1228518817 CA386206763	766	K>M		No	ClinGen TOPMed gnomAD
CA6736316 rs775040666	768	L>F		No	ClinGen ExAC TOPMed gnomAD
CA242293092 rs147386229	768	L>P		No	ClinGen ESP TOPMed gnomAD
rs1215583413 CA386206722	769	L>W		No	ClinGen TOPMed gnomAD
CA386206687 rs1485903955	771	E>K		No	ClinGen TOPMed gnomAD
CA386206682 rs1174268501	771	E>V		No	ClinGen TOPMed
TCGA novel	773	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778911644 CA6736313	774	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6736312 rs757257512	774	S>I		No	ClinGen ExAC gnomAD
CA386206638 rs142744093	776	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs781372572 CA6736310	776	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1399770453 CA386206636	777	S>P		No	ClinGen gnomAD
rs1464243514 CA607145316	780	L>*		No	ClinGen gnomAD
rs751736257 CA6736308	780	L>F		No	ClinGen ExAC gnomAD
rs1356581279 CA386206614	780	L>S		No	ClinGen TOPMed gnomAD
CA386206607 rs1358023267	781	T>R		No	ClinGen gnomAD
CA6736307 rs138691996	782	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758702619 CA6736306	782	N>S		No	ClinGen ExAC gnomAD
CA386206597 rs1192924641	783	G>D		No	ClinGen TOPMed gnomAD
rs750779946 CA6736305	783	G>R		No	ClinGen ExAC TOPMed gnomAD
CA386206591 rs1364901754	784	G>D		No	ClinGen TOPMed
CA6736304 rs765626778	786	K>R		No	ClinGen ExAC gnomAD
rs113409099 CA6736303	787	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386206573 rs1217948195	787	P>T		No	ClinGen TOPMed
rs777149741 CA6736302	789	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1603617071 CA386206555	790	S>*		No	ClinGen Ensembl
CA6736301 rs763623250	790	S>P		No	ClinGen ExAC gnomAD
TCGA novel	791	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6736300 rs141578997	792	T>A		No	ClinGen ESP ExAC TOPMed
CA6736299 rs775152828	792	T>I		No	ClinGen ExAC TOPMed gnomAD
CA386206542 rs775152828	792	T>K		No	ClinGen ExAC TOPMed gnomAD
CA386206522 rs745602629	795	R>K		No	ClinGen ExAC TOPMed gnomAD
rs745602629 CA6736297	795	R>T		No	ClinGen ExAC TOPMed gnomAD
rs770898790 CA6736295	797	S>P		No	ClinGen ExAC gnomAD
CA6736294 rs749197924	798	P>R		No	ClinGen ExAC gnomAD
rs373719344 CA6736293	800	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA386206476 rs371717077	802	E>D		No	ClinGen ExAC TOPMed gnomAD
CA386206465 rs1169787516	804	D>G		No	ClinGen gnomAD
CA386206469 rs1399307246	804	D>N		No	ClinGen TOPMed
CA6736286 rs770500928	805	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6736287 rs765532695	805	I>V		No	ClinGen ExAC gnomAD
rs754279969 CA6736285	807	L>F		No	ClinGen ExAC gnomAD
rs754279969 CA386206448	807	L>I		No	ClinGen ExAC gnomAD
CA242292963 rs925920788	807	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs764525042 CA6736284	809	V>F		No	ClinGen ExAC gnomAD
rs1255724430 CA386206430	810	H>R		No	ClinGen TOPMed gnomAD
CA386206421 rs1481620791	811	V>G		No	ClinGen gnomAD
TCGA novel	811	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386206389 rs1198516805	816	S>G		No	ClinGen gnomAD
TCGA novel	817	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469329347 CA386206381	817	M>V		No	ClinGen gnomAD
rs202099594 CA242292956	819	I>M		No	ClinGen 1000Genomes gnomAD
rs372367384 CA6736281	822	Y>C		No	ClinGen ESP ExAC gnomAD
rs1225115215 CA386206325	824	Y>C		No	ClinGen gnomAD
rs774178269 CA6736278	825	L>P		No	ClinGen ExAC
CA6736279 rs759241961	825	L>V		No	ClinGen ExAC
rs1373933190 CA386206308	827	L>P		No	ClinGen gnomAD
CA6736277 rs770782257	828	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6736276 rs762853189	829	F>L		No	ClinGen ExAC gnomAD
rs146949195 CA6736275	831	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1291776051 CA386206276	831	H>R		No	ClinGen gnomAD
rs1566186336 CA386206221	835	I>M		No	ClinGen Ensembl
TCGA novel	838	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA242292892 rs779971234	839	E>D		No	ClinGen ExAC gnomAD
rs1317747614 CA386206177	840	N>D		No	ClinGen TOPMed
rs772210691 CA6736271	845	V>I		No	ClinGen ExAC gnomAD
CA6736270 rs746054372	846	E>Q		No	ClinGen ExAC gnomAD
CA6736269 rs145731938	847	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	849	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778269474 CA6736266	852	P>S		No	ClinGen ExAC gnomAD
TCGA novel	853	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6736265 rs184942433	855	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA242292841 rs911625976	857	S>Y		No	ClinGen Ensembl
CA242292833 rs964814689	858	I>V		No	ClinGen TOPMed
rs146787839 CA6736263	859	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA386205932 rs1234373323	860	I>V		No	ClinGen gnomAD
CA242292822 rs986263703	861	G>R		No	ClinGen Ensembl
rs759122122 CA6736262	862	I>S		No	ClinGen ExAC gnomAD
rs1200045526 CA386205894	863	L>V		No	ClinGen Ensembl
CA6736260 rs766114491	866	S>R		No	ClinGen ExAC
rs762759794 CA6736259	867	A>V		No	ClinGen ExAC TOPMed gnomAD
CA242292785 rs772996955	870	A>V		No	ClinGen Ensembl
CA6736257 rs769676842	874	H>Y		No	ClinGen ExAC gnomAD
CA386205699 rs1230561373	875	P>A		No	ClinGen gnomAD
rs1475452244 CA386205691	875	P>L		No	ClinGen TOPMed
CA386205667 rs1166632119	877	D>E		No	ClinGen TOPMed
rs776657744 CA6736255	877	D>G		No	ClinGen ExAC gnomAD
TCGA novel	880	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1603617060 CA386205535	883	K>M		No	ClinGen Ensembl
rs369766297 CA6736254	885	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369766297 CA6736253	885	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA386205508 rs1351650954	886	V>L		No	ClinGen gnomAD
rs771140238 CA6736252	887	S>A		No	ClinGen ExAC TOPMed gnomAD
rs771140238 CA6736251	887	S>T		No	ClinGen ExAC TOPMed gnomAD
CA386205477 rs1296934106	888	E>G		No	ClinGen TOPMed
CA386205486 COSM690826 rs1481334953	888	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA386205466 rs1197297418	889	S>N		No	ClinGen TOPMed gnomAD
CA386205453 rs1433136157	890	V>L		No	ClinGen gnomAD
CA386205406 rs1262815578	894	V>I		No	ClinGen gnomAD
CA386205385 rs1196273872	895	P>H		No	ClinGen gnomAD
TCGA novel	895	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140892126 CA242292700	900	T>A		No	ClinGen ESP TOPMed
rs140892126 CA242292697	900	T>S		No	ClinGen ESP TOPMed
TCGA novel	902	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386205279 rs1369867839	903	G>A		No	ClinGen gnomAD
CA6736250 rs749552960	903	G>R		No	ClinGen ExAC gnomAD
CA6736249 rs543956508	904	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs756523027 CA6736248	904	D>V		No	ClinGen ExAC gnomAD
RCV000900027 CA6736247 rs76583795	905	F>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA386205234 rs1284985623	906	L>F		No	ClinGen TOPMed
TCGA novel	908	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386205208 rs1297697073	909	K>E		No	ClinGen TOPMed gnomAD
CA386205204 rs1297697073	909	K>Q		No	ClinGen TOPMed gnomAD
rs1397897515 CA386205200	909	K>R		No	ClinGen gnomAD
rs866025559 CA242292664	910	R>K		No	ClinGen Ensembl
rs1339669051 CA386205186	910	R>S		No	ClinGen gnomAD
rs751107436 CA6736243	913	I>M		No	ClinGen ExAC gnomAD
CA386205147 rs1297747981	913	I>N		No	ClinGen TOPMed gnomAD
CA386205144 rs1297747981	913	I>S		No	ClinGen TOPMed gnomAD
rs200146779 CA6736244	913	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6736242 rs766024356	916	D>G		No	ClinGen ExAC gnomAD
CA242292631 rs1014882892	918	N>D		No	ClinGen TOPMed gnomAD
CA386205086 rs1170923532	920	I>T		No	ClinGen gnomAD
CA6736241 rs758097896 COSM316360	921	R>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6736240 rs750109580	922	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6736238 rs200674263	923	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA242292624 rs200674263	923	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6736237 rs761676429	924	T>N		No	ClinGen ExAC gnomAD
rs1188161847 CA386205050	926	N>S		No	ClinGen gnomAD
CA386205026 rs1443817722	928	M>V		No	ClinGen gnomAD
CA386205005 rs1409496576	929	S>*		No	ClinGen TOPMed
rs201040418 CA6736236	930	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6736235 rs764008103	931	N>H		No	ClinGen ExAC gnomAD
CA6736234 rs760674354	931	N>S		No	ClinGen ExAC gnomAD
rs371599311 CA6736233	932	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771048707 CA6736232	933	S>F		No	ClinGen ExAC gnomAD
CA6736230 rs773515409 COSM4004603	934	M>V	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs898242028 CA242292587	935	S>N		No	ClinGen TOPMed gnomAD
rs898242028 CA386204923	935	S>T		No	ClinGen TOPMed gnomAD
CA242292582 rs942168377	938	L>F		No	ClinGen TOPMed
CA6736228 rs748531819	939	S>C		No	ClinGen ExAC TOPMed gnomAD
CA386204857 rs1566185723	940	H>R		No	ClinGen Ensembl
CA242292575 rs1055649927	941	I>M		No	ClinGen Ensembl
CA386204814 rs1566185689	943	L>F		No	ClinGen Ensembl
rs1431342329 CA386204785	945	D>H		No	ClinGen TOPMed gnomAD
CA386204787 rs1431342329	945	D>N		No	ClinGen TOPMed gnomAD
CA6736226 rs755508154	946	P>T		No	ClinGen ExAC
rs1355934027 CA386204687	950	K>R		No	ClinGen TOPMed
rs747566291 CA6736225	951	S>P		No	ClinGen ExAC gnomAD
rs779659337 CA6736224	955	T>A		No	ClinGen ExAC gnomAD
CA386204615 rs1268885564	955	T>K		No	ClinGen gnomAD
CA6736223 rs758009593	960	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM3764361 rs749973646 CA6736222	961	I>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	962	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	965	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764960227 COSM303515 CA6736221	965	D>Y	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6736219 rs753665268	966	Y>F		No	ClinGen ExAC gnomAD
rs760586166 CA6736217	969	D>G		No	ClinGen ExAC gnomAD
rs775428868 CA6736216	971	H>R		No	ClinGen ExAC TOPMed gnomAD
CA386204358 rs1191222286	971	H>Y		No	ClinGen gnomAD
rs1229795608 CA386204323	974	K>E		No	ClinGen gnomAD
rs1182080458 CA386204287	978	D>E		No	ClinGen TOPMed
rs1244356205 CA386204274	980	S>N		No	ClinGen gnomAD
rs749651431 CA6736214	981	S>N		No	ClinGen ExAC TOPMed gnomAD
rs749651431 CA6736215	981	S>T		No	ClinGen ExAC TOPMed gnomAD
CA386204260 rs1395187892	982	G>E		No	ClinGen TOPMed
CA386204258 rs1395187892	982	G>V		No	ClinGen TOPMed
CA6736213 rs773222421	984	V>I		No	ClinGen ExAC gnomAD
CA6736212 rs770049802	986	K>E		No	ClinGen ExAC gnomAD
CA242292494 rs946104554	986	K>R		No	ClinGen gnomAD
rs142670167 CA6736211	987	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1041307823 CA242292489	989	S>P		No	ClinGen Ensembl
CA386204196 rs1400475176	992	I>T		No	ClinGen TOPMed
CA242292482 rs944312897	993	G>A		No	ClinGen Ensembl
rs1379312309 CA6736207	995	E>A		No	ClinGen TOPMed
CA386204168 rs1381580083	996	T>K		No	ClinGen gnomAD
rs965199453 CA242292481	997	S>I		No	ClinGen TOPMed gnomAD
rs965199453 CA386204153	997	S>N		No	ClinGen TOPMed gnomAD
CA386204148 rs1438589355	997	S>R		No	ClinGen gnomAD
CA386204130 rs1449604109	998	D>E		No	ClinGen gnomAD
rs75201755 CA6736206 RCV000957106	998	D>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA386204143 rs1253547610	998	D>N		No	ClinGen gnomAD
rs75201755 CA386204134	998	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	999	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288911023 CA386204116	999	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	1000	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1000	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780708197 CA6736205	1000	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1354646629 CA386204076	1001	D>E		No	ClinGen gnomAD
CA386204062 rs1262886693	1002	S>*		No	ClinGen gnomAD
rs1196098604 CA386204032	1004	Y>C		No	ClinGen TOPMed
rs1259753876 CA386204023	1005	T>A		No	ClinGen TOPMed
rs141245541 RCV000901415 CA6736203	1005	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6736202 rs367858053	1006	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1006	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756906056 CA6736201	1007	S>L		No	ClinGen ExAC gnomAD
rs1348449192 CA386203968	1009	S>C		No	ClinGen gnomAD
rs144356766 CA6736199	1009	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6736198 rs60592197	1010	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1381650260 CA386203901	1014	R>G		No	ClinGen gnomAD
rs752564237 CA6736197	1015	E>K		No	ClinGen ExAC gnomAD
COSM278000 rs113370005 RCV000886865 CA6736196	1017	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA242292415 rs372554803	1018	N>S		No	ClinGen ESP gnomAD
rs765281127 CA6736193	1019	I>T		No	ClinGen ExAC gnomAD
CA6736194 rs371861221	1019	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1489182667 CA386203776	1023	D>A		No	ClinGen gnomAD
rs777022082 CA386203744	1025	D>G		No	ClinGen ExAC TOPMed gnomAD
rs775112250 CA242292407	1025	D>N		No	ClinGen Ensembl
rs777022082 CA6736191	1025	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1395310314 CA386203737	1026	G>S		No	ClinGen TOPMed
CA386203723 rs770295389	1027	N>D		No	ClinGen ExAC TOPMed gnomAD
rs770295389 CA6736189	1027	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA242292385 rs1012544534	1028	Q>K		No	ClinGen TOPMed
CA242292382 rs898246526	1028	Q>L		No	ClinGen TOPMed
CA386203681 rs772633009	1030	I>L		No	ClinGen ExAC TOPMed gnomAD
rs772633009 CA6736187	1030	I>V		No	ClinGen ExAC TOPMed gnomAD
rs746404933 CA6736186	1032	S>L		No	ClinGen ExAC gnomAD
rs1221393733 CA386203659	1032	S>P		No	ClinGen TOPMed gnomAD
rs149449440 CA6736185	1034	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs78297096 CA6736184	1034	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6736183 rs748900104	1035	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6736182 rs777407948	1036	T>I		No	ClinGen ExAC
TCGA novel	1037	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386203591 rs1207487422	1037	S>R		No	ClinGen TOPMed
rs181691389 CA386203571	1039	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs181691389 CA6736181	1039	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1387772423 CA386203529	1042	T>S		No	ClinGen TOPMed gnomAD
CA6736178 rs780886991	1043	I>M		No	ClinGen ExAC gnomAD
rs373872115 CA6736177	1044	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA386203485 rs1603617051	1045	S>Y		No	ClinGen Ensembl
rs781276279 CA242292322	1046	I>L		No	ClinGen Ensembl
rs1478641085 CA386203420	1050	E>K		No	ClinGen gnomAD
rs761799353 CA6736174	1051	D>G		No	ClinGen ExAC gnomAD
CA6736175 rs765318426	1051	D>H		No	ClinGen ExAC gnomAD
rs1426196324 CA386203397	1052	L>V		No	ClinGen TOPMed
CA6736173 rs201919030	1054	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6736172 COSM1664884 rs574050146	1056	A>V	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs117125810 CA6736171	1058	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1310574748 CA386203319	1059	L>F		No	ClinGen gnomAD
rs1278527405 CA386203304	1060	S>A		No	ClinGen gnomAD
CA386203301 rs1010176682	1060	S>C		No	ClinGen gnomAD
CA242292255 rs1010176682	1060	S>Y		No	ClinGen gnomAD
CA386203295 rs1320393943	1061	E>K		No	ClinGen TOPMed gnomAD
CA6736170 rs775967960	1062	N>H		No	ClinGen ExAC gnomAD
CA386203273 rs1041038874	1063	L>M		No	ClinGen TOPMed
rs1041038874 CA242292233	1063	L>V		No	ClinGen TOPMed
rs1484527005 CA386203258	1064	D>G		No	ClinGen gnomAD
rs1379417249 CA386203244	1065	I>M		No	ClinGen gnomAD
rs1382686389 CA386203247	1065	I>S		No	ClinGen TOPMed
CA6736169 rs370084732	1065	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760040935 CA6736168	1066	S>G		No	ClinGen ExAC gnomAD
TCGA novel	1068	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386203217 rs1445170265	1068	E>K		No	ClinGen gnomAD
CA386203214 rs1445170265	1068	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6736167 rs774754511	1070	T>N		No	ClinGen ExAC gnomAD
rs777331498 CA6736164	1071	P>R		No	ClinGen ExAC
CA6736165 rs748810503	1071	P>S		No	ClinGen ExAC TOPMed gnomAD
rs769406366 CA386203163	1072	P>A		No	ClinGen ExAC TOPMed gnomAD
CA386203156 rs550401137	1072	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6736162 rs550401137	1072	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769406366 CA6736163	1072	P>S		No	ClinGen ExAC TOPMed gnomAD
rs750418659	1073	V>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1242189151 CA386203140	1074	R>G		No	ClinGen TOPMed
rs777948805 CA242292186	1074	R>I		No	ClinGen Ensembl
CA242292187 rs777948805	1074	R>K		No	ClinGen Ensembl
CA242292183 rs1050347477	1075	T>A		No	ClinGen Ensembl
CA386203120 rs1183884950	1075	T>K		No	ClinGen gnomAD
rs1183884950 CA386203119	1075	T>R		No	ClinGen gnomAD
rs754757369 CA6736159	1077	K>I		No	ClinGen ExAC gnomAD
rs1199780007 CA386203046	1081	S>C		No	ClinGen TOPMed gnomAD
CA386203044 rs1199780007	1081	S>Y		No	ClinGen TOPMed gnomAD
rs1256768251 CA386203026	1083	S>R		No	ClinGen gnomAD
rs1457265177 CA386202945	1084	G>R		No	ClinGen gnomAD
rs1439237381 CA386202909	1086	P>L		No	ClinGen TOPMed
rs931454814 CA242291984	1087	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	1088	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756295279 CA6736134	1089	R>C		No	ClinGen ExAC gnomAD
rs377236620 CA6736133	1089	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA386202874 rs756295279	1089	R>S		No	ClinGen ExAC gnomAD
rs981689651 CA242291983	1091	P>L		No	ClinGen TOPMed
CA242291982 rs1037215547	1093	N>S		No	ClinGen gnomAD
rs144152522 CA6736131	1094	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA242291968 rs991443909	1095	A>S		No	ClinGen TOPMed
rs1466840891 CA386202797	1095	A>V		No	ClinGen TOPMed
TCGA novel	1096	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751838840 CA6736130	1096	P>S		No	ClinGen ExAC TOPMed gnomAD
rs992490398 CA242291962	1099	V>A		No	ClinGen gnomAD
CA6736128 rs763399875	1101	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1555286657 CA6736126	1102	K>E		No	ClinGen Ensembl
rs370649493 CA6736125	1103	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1104	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA242291926 rs553659193	1105	K>R		No	ClinGen TOPMed gnomAD
CA386202650 rs1370272991	1107	S>R		No	ClinGen TOPMed
CA6736121 rs768185553	1111	M>I		No	ClinGen ExAC TOPMed gnomAD
CA6736123 rs58214704 VAR_061719	1111	M>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776260919 CA6736122	1111	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1282712576 CA386202536	1115	T>A		No	ClinGen gnomAD
CA386202501 rs1158032424	1117	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA386202493 rs1247244550	1118	L>H		No	ClinGen gnomAD
CA242291901 rs988607664	1122	I>V		No	ClinGen TOPMed
rs1248564770 CA386202412	1124	E>Q		No	ClinGen TOPMed
rs1566184089 CA386202334	1128	L>F		No	ClinGen Ensembl
rs117457255 CA6736115	1129	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1492774 CA386202310 rs1221395982	1130	S>N	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs748164876 CA6736114	1131	D>N		No	ClinGen ExAC gnomAD
rs1424029034 CA386202268	1133	S>N		No	ClinGen TOPMed
CA386202240 rs1200520580	1134	D>V		No	ClinGen gnomAD
CA386202223 rs1483988007	1135	S>N		No	ClinGen gnomAD
CA6736113 rs781371350	1136	H>R		No	ClinGen ExAC gnomAD
CA386202205 rs1168077313	1136	H>Y		No	ClinGen TOPMed
rs755132156 CA6736112	1137	M>T		No	ClinGen ExAC gnomAD
CA6736111 rs751828467	1139	L>S		No	ClinGen ExAC gnomAD
CA386202094 rs1279892039	1141	K>E		No	ClinGen gnomAD
rs780356274 CA6736110	1141	K>N		No	ClinGen ExAC TOPMed gnomAD
CA386202088 rs1216611243	1141	K>R		No	ClinGen gnomAD
TCGA novel	1142	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386200484 rs1254658583	1143	N>S		No	ClinGen TOPMed
CA6736084 rs779286824	1143	N>Y		No	ClinGen ExAC gnomAD
rs1034599833 CA242288005	1144	K>E		No	ClinGen TOPMed
CA6736083 rs757685424	1146	N>D		No	ClinGen ExAC TOPMed gnomAD
rs7296162 VAR_051467 CA6736082	1147	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6736081 rs375564258	1148	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1603616861 CA386200392	1149	T>A		No	ClinGen Ensembl
rs1290355470 CA386200388	1149	T>K		No	ClinGen gnomAD
CA242287991 rs952753780	1150	N>D		No	ClinGen TOPMed
RCV000915432 CA6736079 rs148532198	1151	Y>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA386200316 rs1290200833	1153	G>V		No	ClinGen TOPMed gnomAD
rs1245333647 CA386199663	1157	S>G		No	ClinGen TOPMed gnomAD
CA6736078 rs767265954	1157	S>T		No	ClinGen ExAC gnomAD
TCGA novel	1158	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312031040 CA386199648	1159	N>Y		No	ClinGen gnomAD
CA386199629 rs1335508463	1162	A>P		No	ClinGen gnomAD
TCGA novel	1162	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6736077 rs567671807	1163	N>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1164	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774264621 CA6736075	1165	Q>R		No	ClinGen ExAC gnomAD
CA6736074 rs770779826	1166	N>S		No	ClinGen ExAC gnomAD
rs762759427 CA6736073	1167	Y>C		No	ClinGen ExAC gnomAD
CA386199597 rs1388171291	1167	Y>H		No	ClinGen gnomAD
rs1247271029 CA386199586	1168	G>D		No	ClinGen gnomAD
CA242287966 rs768557331	1170	T>I		No	ClinGen ExAC TOPMed gnomAD
rs768557331 CA386199574	1170	T>N		No	ClinGen ExAC TOPMed gnomAD
rs768557331 CA6736071	1170	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1266958698 CA386199556	1173	D>A		No	ClinGen gnomAD
TCGA novel	1173	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17029945 CA242287960	1175	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000965967 VAR_051468 rs17029945 CA6736070	1175	I>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775610802 CA6736069	1177	T>A		No	ClinGen ExAC gnomAD
CA386199532 rs1288292287	1177	T>R		No	ClinGen gnomAD
TCGA novel	1178	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6736066 rs531069133	1186	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1187	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566178048 CA386199426	1190	M>I		No	ClinGen Ensembl
CA6736056 rs762819033	1190	M>K		No	ClinGen ExAC gnomAD
rs1221444862 CA386199422	1191	S>P		No	ClinGen gnomAD
CA6736055 rs772934262	1192	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA242287501 rs954095369	1193	V>L		No	ClinGen TOPMed
CA386199403 rs1192080255	1194	V>A		No	ClinGen TOPMed
CA6736054 rs765212378	1198	T>A		No	ClinGen ExAC gnomAD
CA242287488 rs924974988	1198	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	1199	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761777651 CA6736053	1199	G>D		No	ClinGen ExAC gnomAD
CA386199374 rs1165424881	1199	G>S		No	ClinGen TOPMed
rs1359251341 CA386199369	1200	V>I		No	ClinGen gnomAD
TCGA novel	1205	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746052464 CA6736050	1206	I>M		No	ClinGen ExAC gnomAD
rs145182066 CA6736049	1207	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6736048 rs771147002	1207	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA242287438 rs948462824	1208	G>R		No	ClinGen Ensembl
CA386199269 rs1426041032	1210	D>E		No	ClinGen gnomAD
rs374506093 CA6736047	1211	T>R		No	ClinGen ESP ExAC gnomAD
CA242287427 rs1020638314	1213	I>L		No	ClinGen TOPMed gnomAD
CA242287425 rs915693267	1214	C>R		No	ClinGen Ensembl
TCGA novel	1214	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6736043 rs780806693	1218	N>K		No	ClinGen ExAC TOPMed gnomAD
CA6736044 rs748715320	1218	N>S		No	ClinGen ExAC gnomAD
CA6736041 rs751198927	1219	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1326871091 CA386199151	1220	V>M		No	ClinGen gnomAD
CA386199121 rs1320453414	1222	P>Q		No	ClinGen gnomAD
CA386199119 rs1320453414	1222	P>R		No	ClinGen gnomAD
CA386199128 rs1341042270	1222	P>S		No	ClinGen TOPMed
rs144078207 CA6736039 RCV000879076	1223	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs190628474 CA6736036	1227	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1566177741 CA386199049	1228	I>V		No	ClinGen Ensembl
rs761692207 CA6736035	1229	S>G		No	ClinGen ExAC gnomAD
CA386199021 rs1466928634	1230	L>F		No	ClinGen gnomAD
CA6736034 rs776583275	1230	L>H		No	ClinGen ExAC gnomAD
CA6736032 rs759629593	1231	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767522996 CA6736033	1231	R>W		No	ClinGen ExAC TOPMed gnomAD
rs774353133 CA6736031	1236	N>D		No	ClinGen ExAC gnomAD
CA386198936 rs1487004376	1236	N>T		No	ClinGen TOPMed
rs771180318 CA6736030	1237	R>C		No	ClinGen ExAC gnomAD
COSM1476011 CA6736029 rs765566766	1237	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs185325895 CA6736028	1238	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1566177685 CA386198890	1239	V>I		No	ClinGen Ensembl
CA386197949 rs1489051448	1241	S>C		No	ClinGen gnomAD
rs1358041246 CA386197933	1242	D>E		No	ClinGen TOPMed gnomAD
CA242286153 rs367794820	1242	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367794820 CA6736011	1242	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA242286149 rs952557768	1243	Q>P		No	ClinGen TOPMed gnomAD
CA386197929 rs952557768	1243	Q>R		No	ClinGen TOPMed gnomAD
CA386197900 rs1259408256	1245	A>G		No	ClinGen TOPMed
CA6736010 rs200537055	1246	V>I		No	ClinGen ExAC TOPMed gnomAD
rs200537055 CA386197894	1246	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1478429423 CA386197869	1248	H>Y		No	ClinGen gnomAD
rs1315032145 CA386197838	1250	K>I		No	ClinGen TOPMed gnomAD
rs751627931 CA6736009	1250	K>N		No	ClinGen ExAC TOPMed gnomAD
rs200869823 CA6736008	1251	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA6736007 rs767369422	1252	S>C		No	ClinGen ExAC gnomAD
rs767369422 CA386197814	1252	S>F		No	ClinGen ExAC gnomAD
CA6736006 rs549914961	1255	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs770224423 CA6736005	1256	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1256	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6736004 rs374120261	1261	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1455467034 CA386197731	1262	G>E		No	ClinGen gnomAD
CA6736003 rs777199624	1263	P>S		No	ClinGen ExAC gnomAD
rs769250969 CA6736002	1264	G>S		No	ClinGen ExAC gnomAD
rs994341297 CA242286105	1271	L>P		No	ClinGen Ensembl
rs370537329 CA6736001	1271	L>V		No	ClinGen ESP ExAC gnomAD
CA386197669 rs1434593788	1272	A>V		No	ClinGen TOPMed
TCGA novel	1275	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386197641 rs1488295931	1276	G>E		No	ClinGen Ensembl
TCGA novel	1277	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196781398 CA386197634	1277	F>S		No	ClinGen gnomAD
rs961000680 COSM199241 CA386197624	1279	Q>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs961000680 CA242286104	1279	Q>K		No	ClinGen gnomAD
CA6735999 rs76548077	1281	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6736000 rs779565360	1281	H>Y		No	ClinGen ExAC gnomAD
rs1233908969 CA386197599	1282	I>M		No	ClinGen gnomAD
rs201390016 CA242286103	1282	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs745461244 CA6735998	1283	E>K		No	ClinGen ExAC TOPMed gnomAD
rs778554412 CA6735997	1284	N>D		No	ClinGen ExAC gnomAD
rs753626085 CA6735995	1286	S>G		No	ClinGen ExAC TOPMed gnomAD
CA386197573 rs1209055032	1286	S>N		No	ClinGen TOPMed gnomAD
rs777586495 CA6735994	1287	T>A		No	ClinGen ExAC gnomAD
CA6735992 rs551118695	1287	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6735993 rs551118695	1287	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386197553 rs1603616798	1289	F>C		No	ClinGen Ensembl
CA386197558 rs1382893636	1289	F>L		No	ClinGen gnomAD
rs1220863863 CA386197533	1292	S>F		No	ClinGen TOPMed gnomAD
CA6735989 rs144370067	1293	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs935430264 CA242286078	1293	S>T		No	ClinGen TOPMed
TCGA novel	1293	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA242286066 rs765550863	1294	L>F		No	ClinGen ExAC TOPMed gnomAD
rs765550863 CA6735988	1294	L>V		No	ClinGen ExAC TOPMed gnomAD
CA386197522 rs1180845734	1295	M>T		No	ClinGen TOPMed
rs751825117 CA242286063	1295	M>V		No	ClinGen Ensembl
rs764572907 CA6735983 COSM3739362	1299	H>Q	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs777109920 CA6735984	1299	H>R		No	ClinGen ExAC gnomAD
TCGA novel	1301	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6735982 rs761201962	1302	E>D		No	ClinGen ExAC gnomAD
TCGA novel	1302	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6735981 rs775867416	1303	D>G		No	ClinGen ExAC gnomAD
rs1202797195 CA386197338	1308	T>A		No	ClinGen gnomAD
CA6735980 rs771556249	1308	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6735979 rs745359695	1310	M>I		No	ClinGen ExAC gnomAD
rs1324718687 CA386197288	1312	M>V		No	ClinGen gnomAD
rs770539666 CA6735977	1313	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1385600563 CA386197258	1314	I>L		No	ClinGen gnomAD
CA386197245 rs777496790	1314	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1335398169 CA386197250	1314	I>T		No	ClinGen gnomAD
CA6735974 rs755894791	1319	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6735973 rs559357120	1319	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6735971 rs541139477	1320	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA386197149 rs1446004639	1322	N>D		No	ClinGen TOPMed gnomAD
rs1241127899 CA386197138	1322	N>K		No	ClinGen gnomAD
CA242285775 rs889134207	1325	D>E		No	ClinGen TOPMed
CA386197062 rs1273317707	1326	D>G		No	ClinGen TOPMed gnomAD
CA386197057 rs1352014596	1327	S>G		No	ClinGen gnomAD
CA6735949 rs754058667	1328	P>L		No	ClinGen ExAC gnomAD
CA6735950 rs145486599	1328	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756428843 COSM324174 CA6735947	1329	R>Q	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777847049 CA6735948	1329	R>W		No	ClinGen ExAC TOPMed gnomAD
CA386197043 rs1406419743	1330	S>R		No	ClinGen gnomAD
rs767974396 CA6735946	1331	S>N		No	ClinGen ExAC TOPMed gnomAD
rs370001245 CA6735944	1331	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs767974396 CA6735945	1331	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1056683 CA386196980	1340	V>I		No	ClinGen gnomAD
rs1056683 CA242285717	1340	V>L		No	ClinGen gnomAD
TCGA novel	1345	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1345	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772774652 CA6735940	1346	H>R		No	ClinGen ExAC TOPMed gnomAD
rs762434666 CA6735941	1346	H>Y		No	ClinGen ExAC gnomAD
rs769299311 CA6735939	1347	L>V		No	ClinGen ExAC gnomAD
rs761571874 CA386196929	1348	V>L		No	ClinGen ExAC gnomAD
CA6735938 rs761571874	1348	V>M		No	ClinGen ExAC gnomAD
rs1447663052 CA386196912	1350	E>D		No	ClinGen gnomAD
CA6735936 rs527941532	1353	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1203923741 CA386196895	1353	D>N		No	ClinGen gnomAD
CA6735934 rs780156421	1354	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1355	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772196751 CA6735933	1356	S>A		No	ClinGen ExAC gnomAD
rs1282312866 CA386196858	1358	H>R		No	ClinGen gnomAD
CA6735931 rs777952675	1359	I>V		No	ClinGen ExAC gnomAD
CA386196485 rs1188924354	1361	D>E		No	ClinGen TOPMed
rs1405115085 CA386196489	1361	D>V		No	ClinGen gnomAD
rs935836715 CA242281720	1364	M>I		No	ClinGen TOPMed
CA386196384 rs1167565882	1369	N>S		No	ClinGen TOPMed
CA242281711 rs956393965	1372	K>Q		No	ClinGen Ensembl
TCGA novel	1373	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747340062 CA6735906	1378	D>E		No	ClinGen ExAC gnomAD
rs755256755 CA6735907	1378	D>G		No	ClinGen ExAC gnomAD
CA6735908 rs781491988	1378	D>N		No	ClinGen ExAC gnomAD
CA6735905 rs780442132	1380	V>L		No	ClinGen ExAC gnomAD
rs1008801280 CA386196225	1381	L>V		No	ClinGen Ensembl
rs1270532171 CA386196186	1384	S>T		No	ClinGen gnomAD
TCGA novel	1385	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758849001 CA6735904	1385	G>R		No	ClinGen ExAC gnomAD
rs1317018203 CA386196163	1386	K>E		No	ClinGen gnomAD
rs1436231950 CA386196122	1388	D>E		No	ClinGen TOPMed
rs1450402297 CA386196074	1392	Q>P		No	ClinGen gnomAD
rs142553294 CA6735901	1393	R>C	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA6735900 rs61743540	1393	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6735899 rs763835331	1394	S>G		No	ClinGen ExAC gnomAD
rs549973520 CA242281666	1394	S>I		No	ClinGen 1000Genomes ExAC gnomAD
rs549973520 CA6735898	1394	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs775403632 CA6735897	1395	V>A		No	ClinGen ExAC
CA6735896 rs191116946	1396	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6735893 rs77524377	1397	Q>K		No	ClinGen ExAC gnomAD
CA242281647 rs1037752406	1397	Q>R		No	ClinGen TOPMed gnomAD
rs776612010 CA6735891	1399	T>I		No	ClinGen ExAC gnomAD
CA6735892 rs748253533	1399	T>S		No	ClinGen ExAC gnomAD
rs747250247 CA6735889	1402	S>N		No	ClinGen ExAC gnomAD
rs1490360105 CA386195934	1403	P>L		No	ClinGen gnomAD
rs552061840 CA386195919	1405	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552061840 CA6735888	1405	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1407	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386195820 rs1566168701	1413	N>D		No	ClinGen Ensembl
rs148804891 CA6735885 COSM1581889	1414	F>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA386195768 CA386195766 rs1307695925	1416	E>D		No	ClinGen gnomAD
TCGA novel	1417	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs958333227 CA242281625	1417	F>V		No	ClinGen TOPMed gnomAD
CA6735884 rs757773138	1419	F>V		No	ClinGen ExAC TOPMed gnomAD
rs753358714 CA6735883	1420	D>N		No	ClinGen ExAC gnomAD
rs368752078 CA6735882	1423	R>K		No	ClinGen ESP ExAC gnomAD
CA242280745 rs903617318	1426	L>F		No	ClinGen TOPMed
rs1285436700 CA386195622	1427	M>T		No	ClinGen gnomAD
rs148413208 CA242280741	1427	M>V		No	ClinGen ESP TOPMed gnomAD
CA6735866 rs746240661	1428	E>A		No	ClinGen ExAC gnomAD
CA386195604 rs1392776613	1429	E>D		No	ClinGen TOPMed
CA386195582 rs1390139788	1432	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs779187131 CA6735865	1432	S>P		No	ClinGen ExAC
CA386195580 rs771447956	1433	L>F		No	ClinGen ExAC gnomAD
CA6735864 rs771447956	1433	L>V		No	ClinGen ExAC gnomAD
CA386195576 rs1455780799	1434	K>Q		No	ClinGen gnomAD
CA386195558 rs1473508623	1436	E>*		No	ClinGen gnomAD
rs1158867828 CA386195516	1442	M>R		No	ClinGen gnomAD
rs1355577594 CA386195508	1443	A>S		No	ClinGen TOPMed
rs1470548128 CA386195494	1445	A>G		No	ClinGen gnomAD
CA386195476 rs1430893001	1448	H>Y		No	ClinGen gnomAD
rs1444836197 CA386195463	1450	E>K		No	ClinGen TOPMed
CA386195454 rs1296747769	1451	K>E		No	ClinGen TOPMed
CA386195435 rs1373031612	1453	A>G		No	ClinGen TOPMed
rs777382260 CA6735862	1454	L>P		No	ClinGen ExAC gnomAD
CA386195432 rs1196856278	1454	L>V		No	ClinGen gnomAD
rs1261858886 CA386195428	1455	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs372236461 CA242280721	1455	L>H		No	ClinGen ESP TOPMed
CA386195420 rs1603616570	1456	H>P		No	ClinGen Ensembl
CA386195421 rs1250637491	1456	H>Y		No	ClinGen gnomAD
rs1566167006 CA386195412	1457	H>L		No	ClinGen Ensembl
TCGA novel	1457	H>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373807346 CA6735860	1458	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA242280718 rs368712199	1458	I>V		No	ClinGen ESP TOPMed gnomAD
rs144439125 CA6735859	1462	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA386195369 rs1330780469	1463	V>A		No	ClinGen gnomAD
rs754624334 CA6735857	1463	V>I		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with A0JNW5

1 regional properties for A0JNW5

Type	Name	Position	InterPro Accession
domain	Vacuolar protein sorting-associated protein 13-like, N-terminal domain	2 - 95	IPR026854

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Early endosome	Localizes on a subpopulation of vesicle clusters in the early endocytic pathway
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.

2 GO annotations of molecular function

Name	Definition
GARP complex binding	Binding to a GARP complex.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A2RSJ4	Uhrf1bp1l	UHRF1-binding protein 1-like	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAGIIKKQIL	KHLSRFTKNL	SPDKINLSTL	KGEGELKNLE	LDEEVLQNML	DLPTWLAINK
70	80	90	100	110	120
VFCNKASIRI	PWTKLKTHPI	CLSLDKVIME	MSTCEEPRSP	NGPSPIATAS	GQSEYGFAEK
130	140	150	160	170	180
VVEGISVSVN	SIVIRIGAKA	FNASFELSQL	RIYSVNAHWE	HGDLRFTRIQ	DPQRGEVLTF
190	200	210	220	230	240
KEINWQMIRI	EADATQSSHL	EIMCAPVRLI	TNQSKIRVTL	KRRLKDCNVI	ATKLVLILDD
250	260	270	280	290	300
LLWVLTDSQL	KAMVQYAKSL	SEAIEKSTEQ	RKSMAPEPTQ	SSTVVASAQQ	VKTTQTSNAP
310	320	330	340	350	360
DVNDAIVKLF	NDFDVKETSH	HLVISHLDLH	ICDDIHAKEK	ESNRRITGGA	MQLSFTQLTI
370	380	390	400	410	420
DYYPYHKAGD	SCNHWMYFSD	ATKTKNGWAN	ELLHEFECNV	EMLKQAVKDH	NVGSPPKSPT
430	440	450	460	470	480
HASPQHTQTE	KDYPLKGTCR	TPSVLSQQSK	AKLMSSSVVV	RLADFNIYQV	STAEQCRSSP
490	500	510	520	530	540
KSMICCNKKS	LYLPQEMSAV	YIEFTEYYYP	DGKDFPIPSP	NLYSQLNALQ	FTVDERSILW
550	560	570	580	590	600
LNQFLLDLKQ	SLNQFMAVYK	LNDNSKSDEH	VDVRVDGLML	KFVIPSEVKS	ECHQDQPRAI
610	620	630	640	650	660
SIQSSEMIAT	NTRHCPNCRH	SDLEALFQDF	KDCDFFSKTY	TSFPKSCDNF	NLLHPIFQRH
670	680	690	700	710	720
AHEQDTKMHE	IYKGNITPQL	NKNTLKTSAA	TDVWAVYFSQ	FWIDYEGMKS	GKGRPISFVD
730	740	750	760	770	780
SFPLSIWICQ	PTRYAESQKE	PQTCNQVSLN	TSQSESSDLA	GRLKRKKLLK	EYYSTESEPL
790	800	810	820	830	840
TNGGQKPSSS	DTFFRFSPSS	SEADIHLLVH	VHKHVSMQIN	HYQYLLLLFL	HESLILLSEN
850	860	870	880	890	900
LRKDVEAVTG	SPASQTSICI	GILLRSAELA	LLLHPVDQAN	TLKSPVSESV	SPVVPDYLPT
910	920	930	940	950	960
ENGDFLSSKR	KQISRDINRI	RSVTVNHMSD	NRSMSVDLSH	IPLKDPLLFK	SASDTNLQKG
970	980	990	1000	1010	1020
ISFMDYLSDK	HLGKISEDES	SGLVYKSGSG	EIGSETSDKK	DSFYTDSSSI	LNYREDSNIL
1030	1040	1050	1060	1070	1080
SFDSDGNQNI	LSSTLTSKGN	ETIESIFKAE	DLLPEAASLS	ENLDISKEET	PPVRTLKSQS
1090	1100	1110	1120	1130	1140
SLSGKPKERC	PPNLAPLCVS	YKNMKRSSSQ	MSLDTISLDS	MILEEQLLES	DGSDSHMFLE
1150	1160	1170	1180	1190	1200
KGNKKNSTTN	YRGTAESVNA	GANLQNYGET	SPDAISTNSE	GAQENHDDLM	SVVVFKITGV
1210	1220	1230	1240	1250	1260
NGEIDIRGED	TEICLQVNQV	TPDQLGNISL	RHYLCNRPVG	SDQKAVIHSK	SSPEISLRFE
1270	1280	1290	1300	1310	1320
SGPGAVIHSL	LAEKNGFLQC	HIENFSTEFL	TSSLMNIQHF	LEDETVATVM	PMKIQVSNTK
1330	1340	1350	1360	1370	1380
INLKDDSPRS	STVSLEPAPV	TVHIDHLVVE	RSDDGSFHIR	DSHMLNTGND	LKENVKSDSV
1390	1400	1410	1420	1430	1440
LLTSGKYDLK	KQRSVTQATQ	TSPGVPWPSQ	SANFPEFSFD	FTREQLMEEN	ESLKQELAKA
1450	1460
KMALAEAHLE	KDALLHHIKK	MTVE